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Gene: Ccbe1 MGI:2445053

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Gene Summary

Name:
collagen and calcium binding EGF domains 1
Synonyms:
4933426F18Rik,  9430093N24Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
small liver Ccbe1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Ccbe1em1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Ccbe1em1(IMPC)Mbp HOM E15.5 0.00
abnormal liver morphology Ccbe1em1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Ccbe1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta vasculature Ccbe1em1(IMPC)Mbp HOM E15.5 0.00
pale liver Ccbe1em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Ccbe1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal retina blood vessel morphology Ccbe1em1(IMPC)Mbp HET Early adult 1.84×10-06
abnormal retina morphology Ccbe1em1(IMPC)Mbp HET   Early adult 3.39×10-05
edema Ccbe1em1(IMPC)Mbp HOM E15.5 0.00
persistence of hyaloid vascular system Ccbe1em1(IMPC)Mbp HET Early adult 1.51×10-06
enlarged uterus Ccbe1em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Ccbe1em1(IMPC)Mbp HOM E15.5 0.00
abnormal retina vasculature morphology Ccbe1em1(IMPC)Mbp HET Early adult 4.09×10-08
microphthalmia Ccbe1em1(IMPC)Mbp HET E15.5 0.00
abnormal uterus morphology Ccbe1em1(IMPC)Mbp HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Morphology Embryo E14.5-E15.5

Images

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

1 Images

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Human diseases caused by Ccbe1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ccbe1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Lymphedema, Pleural effusion, Nonimmune hydrops fetalis, Thyroid lym... OMIM:235510
Hennekam Syndrome
Arteriovenous malformation, Chylothorax, Lymphedema, Ascites, Lymphopenia, Decreased circulating ... ORPHA:2136

The table below shows human diseases predicted to be associated to Ccbe1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Lymphatic Malformation 9
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Predominantly lower limb lymphedema, Genital edema, Abnormal lymphatic vessel morph... ORPHA:568051
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia ORPHA:46532
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis OMIM:606690
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels, Lymphedema OMIM:153300
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels OMIM:153200
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic... OMIM:153100
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... OMIM:615631
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Primary Intestinal Lymphangiectasia
Generalized edema, Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiecta... ORPHA:90362
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Gonadal dysgenesis OMIM:615041
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hb Bart'S Hydrops Fetalis
Oligohydramnios, Polyhydramnios, Splenomegaly, Abnormal hemoglobin, Pallor, Hepatomegaly, Anemia,... ORPHA:163596
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Lipedema
Edema OMIM:614103
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa... ORPHA:507
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Pallor, Reticulocy... OMIM:266200
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El... OMIM:615234
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob... ORPHA:848
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia OMIM:608898
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Pedal edema, Edema, Stillbirth OMIM:152800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Kaposiform Lymphangiomatosis
Pancreatic cysts, Hepatosplenomegaly, Pleural effusion, Lymphangioma, Abnormal lymphatic vessel m... ORPHA:464329
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Lymphedema, Leukocytosis, Splenomegaly, Pallor, Lymp... ORPHA:3226
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... ORPHA:2330
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane... OMIM:603552
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... OMIM:254450
Cold Agglutinin Disease
Pallor, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Acute Peripheral Arterial Occlusion
Stroke, Leukocytosis, Pallor ORPHA:90064
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg... OMIM:194380
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Elevated circulating hepatic transaminase... ORPHA:331206
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... OMIM:300751
Nanophthalmos 4
Microphthalmia OMIM:615972
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Elliptocytosis 1
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Nanophthalmos
Microphthalmia ORPHA:35612
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Pallor OMIM:613561
Transaldolase Deficiency
Premature skin wrinkling, Hepatosplenomegaly, Coarctation of aorta, Cirrhosis, Thrombocytopenia, ... ORPHA:101028
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased ... ORPHA:231222
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Intestinal lymphangiectasia, Lymphedema, Pericardial lymphangiectasia, Pulmonary lymphangiectasia OMIM:616006
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia ORPHA:100025
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Evans Syndrome
Pallor, Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibod... ORPHA:1959
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ... OMIM:613839
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Preeclampsia/Eclampsia 1
Elevated circulating hepatic transaminase concentration, Edema, Thrombocytopenia OMIM:189800
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Fetal Parvovirus Syndrome
Ascites, Increased nuchal translucency, Thrombocytopenia, Anemia, Hydrops fetalis ORPHA:295
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Pallor, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Patent ductus a... ORPHA:2123
Polycythemia Vera
Increased hematocrit, Cerebral hemorrhage, Leukocytosis, Splenomegaly, Increased red blood cell m... OMIM:263300
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Stroke, Lymphadenopathy, Autoi... ORPHA:444463
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Foam cells with lamellar inclusion bodies, Splenomegaly, Hepatomegaly, Th... OMIM:607616
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Congenital Dyserythropoietic Anemia Type Iii
Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor... ORPHA:98870
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto... ORPHA:300298
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... ORPHA:100024
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp... OMIM:620632
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Letterer-Siwe Disease
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Skin ulcer, Leukopenia, Anemia, Abnormality of neutrophils, Dec... ORPHA:33355
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Hepatic failure, Cirrhosis, Lymphangiectasis, Hepatomegaly, Edema OMIM:602579
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp... OMIM:613101
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, P... ORPHA:101096
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Facial erythema, Incr... ORPHA:284227
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy, Erythema ORPHA:158014
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Ba... ORPHA:846
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Autosomal Erythropoietic Protoporphyria
Erythema, Cholelithiasis, Decreased liver function, Microcytic anemia, Cirrhosis, Edema ORPHA:79278
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Petechiae, Thrombocytopenia, Impaired platelet aggregatio... OMIM:187800
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Waldenström Macroglobulinemia
Normocytic anemia, Vasculitis, Periorbital edema, Monoclonal immunoglobulin M proteinemia, Pleura... ORPHA:33226
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... ORPHA:35858
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Generalized edema, Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Th... OMIM:226300
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Cerebrooculofacioskeletal Syndrome 3
Edema, Microphthalmia OMIM:616570
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegaly, Mediastinal lymp... ORPHA:158029
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphangiectasis, Lymphedema ORPHA:182
Nephronophthisis
Anemia ORPHA:655
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... ORPHA:98849
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Yellow Nail Syndrome
Hypoplasia of lymphatic vessels, Lymphedema ORPHA:662
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Dry skin, Leukopenia, Thrombocytopenia, Anemia, Decreased circulatin... OMIM:618116
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Generalized edema, Intestinal lymphangiectasia OMIM:207731
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatome... OMIM:613313
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Donnai-Barrow Syndrome
Abnormality of the uterus, Retinal detachment, Bicornuate uterus, Iris coloboma, Retinal dystrophy ORPHA:2143
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Schnitzler Syndrome
Vasculitis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulat... ORPHA:37748
Protoporphyria, Erythropoietic, 1
Erythema, Cholelithiasis, Hepatic failure, Hemolytic anemia, Edema OMIM:177000
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Decreased ... OMIM:308240
Immunodeficiency 27A
Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy,... OMIM:209950
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrops f... OMIM:616738
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Hereditary Folate Malabsorption
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating... ORPHA:90045
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Classic Mycosis Fungoides
Erythema, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... ORPHA:2584
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Dehydration ORPHA:28
American Trypanosomiasis
Pallor, Splenomegaly, Hepatomegaly, Lymphadenopathy, Periorbital edema, Edema ORPHA:3386
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Splenomegaly, Hepatomegaly, Vasculitis in the skin, Anemia, Purpura OMIM:620296
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Hepatomegaly, Lymphadenopathy, ... ORPHA:858
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatomegaly, Eosinophili... OMIM:226990
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... OMIM:206100
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:600462
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Hemochromatosis, Type 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Neutropenia, Ane... OMIM:604250
Sepsis In Premature Infants
Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Hepatomegaly, Thrombocyt... ORPHA:90051
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... OMIM:265300
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor ORPHA:99931
Parkes Weber Syndrome
Arteriovenous malformation, Vascular tortuosity, Venous malformation, Spinal arteriovenous malfor... ORPHA:90307
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Erythema, Edema OMIM:154800
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Purpura ORPHA:3204
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Stroke, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Dehydration ORPHA:79312
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema OMIM:223350
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly, Anemia ORPHA:1046
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Petechiae, Neutropenia, Thromb... OMIM:616216
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Cerebral hemorrhage OMIM:614514
Peripheral Cone Dystrophy
Pallor OMIM:609021
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Erythrocytosis, Familial, 2
Increased hematocrit, Varicose veins, Increased red blood cell mass, Stroke, Increased circulatin... OMIM:263400
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Pallor, An... OMIM:301310
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Congenital Heart Block
Oligohydramnios, Pleural effusion, Peripheral edema, Pallor, Pericardial effusion, Hydrops fetali... ORPHA:60041
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Ascite... OMIM:617021
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Petechiae, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells ORPHA:75233
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Lymphedema, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Redundant neck s... OMIM:235255
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Joint swelling, Anemia of inadequat... OMIM:609628
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphadenitis, Lymphedema, Abnormality of the lymphatic syst... ORPHA:2035
Mmep Syndrome
Microphthalmia ORPHA:3434
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph... ORPHA:54251
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Hepatic foam c... OMIM:278000
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia, Dehydration ORPHA:27
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia, ... OMIM:614742
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Dehydration, Leukopenia, Leukocytosis, P... ORPHA:20
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lymphedema, Ascites, P... OMIM:616843
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Petechiae, Ecchymosis, Anemia, Inguinal lymphadenopathy OMIM:620514
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly... ORPHA:457077
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... OMIM:615438
Omenn Syndrome
Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia,... ORPHA:39041
Isolated Agammaglobulinemia
Skin ulcer, Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormality of t... ORPHA:229717
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Cinca Syndrome
Lymphedema, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Facial edema, Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia OMIM:618398
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Ascites, Cholestasis, Oligohydramnios, Neonatal death, Hepatomegaly, Th... OMIM:608104
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor, Edema ORPHA:329971
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Focal Segmental Glomerulosclerosis 1
Anemia, Pleural effusion, Edema, Ascites OMIM:603278
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Idiopathic Hypereosinophilic Syndrome
Angioedema, Hepatosplenomegaly, Chronic hepatitis, Neutrophilia, Myeloproliferative disorder, Por... ORPHA:3260
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... OMIM:606003
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Petechiae, Hepa... ORPHA:294
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Impaired Ig class switch r... OMIM:308230
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Edema OMIM:619183
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys ORPHA:3411
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Sézary Syndrome
Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadeno... ORPHA:3162
Beta-Ketothiolase Deficiency
Edema, Leukocytosis, Pallor, Thrombocytosis, Hepatomegaly, Dehydration ORPHA:134
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Elevated circulating aspartate aminotransferase concentration, Pallor, Hepatomegaly, Elevated cir... OMIM:246450
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Aggressive Systemic Mastocytosis
Decreased liver function, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis,... ORPHA:98850
Prolidase Deficiency
Skin ulcer, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Petechia... OMIM:170100
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Cryptorchidism, Go... OMIM:194072
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Persistent left superior vena cava, Acute myeloid leukem... OMIM:619151
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphed... ORPHA:90186
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Hemochromatosis, Type 4
Anemia, Hepatomegaly, Cirrhosis, Hepatic steatosis OMIM:606069
Thymic Carcinoma
Neoplasm of the thymus, Palpebral edema, Abnormal vena cava morphology, Mediastinal lymphadenopat... ORPHA:99868
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Lymphedema, Pleural effusion, Nonimmune hydrops fetalis, Thyroid lym... OMIM:235510
Desmoplastic Small Round Cell Tumor
Ascites, Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Anemia, Mediastinal lymph... ORPHA:83469
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Hydrops fetalis, Polyhydramnios, Abnormal aortic morphology ORPHA:3405
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia ORPHA:276575
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Congenital Enterovirus Infection
Fetal ascites, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrop... ORPHA:292
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Petechiae, Lymphadenopathy, Neutropenia, Hepatomega... ORPHA:79477
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor ORPHA:276556
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Klippel-Trénaunay Syndrome
Edema, Microcytic anemia, Ascites, Venous insufficiency, Hepatomegaly, Hydrops fetalis, Patent du... ORPHA:90308
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:100026
Hemophagocytic Lymphohistiocytosis, Familial, 2
Generalized edema, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Red... OMIM:603553
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Reticulocytopenia, Thrombocytopenia, Neutr... ORPHA:88
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia... OMIM:304790
Xk Aprosencephaly Syndrome
Polyhydramnios, Microphthalmia ORPHA:3469
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Skin ulcer, Abnormal erythrocyte morphology, Congenital hemolytic... ORPHA:288
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab... ORPHA:1451
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Splenomega... OMIM:616050
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf... ORPHA:158061
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... ORPHA:398124
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Abnormal endometrium morphology, Ovarian fibroma... ORPHA:314478
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor ORPHA:276580
Optic Atrophy 1
Pallor OMIM:165500
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia... OMIM:275350
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
X-Linked Agammaglobulinemia
Hepatitis, Skin ulcer, Abnormality of the lymphatic system, Agammaglobulinemia, Abnormality of th... ORPHA:47
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Tufted Angioma
Anemia, Purpura, Petechiae, Thrombocytopenia ORPHA:1063
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Proteasome-Associated Autoinflammatory Syndrome 3
Periorbital edema, Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenome... OMIM:617591
Coach Syndrome 3
Anemia, Portal fibrosis OMIM:619113
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Wells Syndrome
Skin vesicle, Eosinophilia, Edema ORPHA:901
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Mic... OMIM:618805
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion OMIM:613885
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pallor, Hepatic cysts, Vascular dilatation, Pancreatic cysts OMIM:616307
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Sitosterolemia 1
Stomatocytosis, Giant platelets, Splenomegaly, Reticulocytosis, Coronary artery atherosclerosis, ... OMIM:210250
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Adult-Onset Still Disease
Bone marrow hypocellularity, Erythema, Elevated circulating hepatic transaminase concentration, H... ORPHA:829
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukoc... ORPHA:514
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Ascites, Pallor, Polyhydramnios OMIM:606812
Bazex Syndrome
Anemia, Scaling skin, Edema ORPHA:166113
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Petechiae, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc... OMIM:300367
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Oligohydramnios, Reticulocytosis, Macrocytic anemia, Anisocyt... ORPHA:71275
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ... ORPHA:77259
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia OMIM:600901
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Neonatal death, Decreased liver function, Nonimmune hydrops fetalis OMIM:618835
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Neonatal death, Decreased liver function, Nonimmune hydrops fetalis OMIM:618839
Hemophagocytic Lymphohistiocytosis, Familial, 1
Generalized edema, Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thr... OMIM:267700
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Pallor, Neutropenia OMIM:609053
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Vascular dilatation, Neutropenia OMIM:617056
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Cofs Syndrome
Microphthalmia ORPHA:1466
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Bile duct proliferation, Anencephaly OMIM:611561
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia OMIM:227650
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Petechiae, Impaired coll... OMIM:153670
Immunodeficiency 22
Decreased circulating IgG level, Ascites, Decreased circulating IgA level, Decreased proportion o... OMIM:615758
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Q Fever
Vasculitis, Elevated circulating hepatic transaminase concentration, Granuloma, Abnormal vascular... ORPHA:781
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia OMIM:617914
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thr... OMIM:616959
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Hepatosplenome... OMIM:610377
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... OMIM:611881
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia,... OMIM:227645
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Oligohydramnios, Microphthalmia OMIM:619053
Donnai-Barrow Syndrome
Iris coloboma, Bicornuate uterus, Retinal detachment, Retinal dystrophy OMIM:222448
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Cryptorchidism ORPHA:1756
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Anemic pa... OMIM:227646
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... OMIM:214500
Acute Promyelocytic Leukemia
Leukopenia, Pancytopenia, Leukocytosis, Petechiae, Ecchymosis, Lymphadenopathy, Neutropenia, Thro... ORPHA:520
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:47612
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Neutrophilic Dermatosis, Acute Febrile
Anemia, Erythema, Pyoderma gangrenosum, Small vessel vasculitis OMIM:608068
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... ORPHA:263455
Neuroblastoma
Anemia, Anemic pallor, Lymphadenopathy, Thrombocytopenia ORPHA:635
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Splenomegaly, Redundan... ORPHA:1655
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Elevated circulating a... OMIM:620376
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Bicornuate uterus OMIM:263210
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Microphthalmia ORPHA:2547
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Castleman Disease